A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275000



Internal ID1220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:98256631..98256675hg38UCSC Ensembl
Outerchr7:98256413..98258685hg38UCSC Ensembl
Innerchr7:97885943..97885987hg19UCSC Ensembl
Outerchr7:97885725..97887997hg19UCSC Ensembl
Innerchr7:97723879..97723923hg18UCSC Ensembl
Outerchr7:97723661..97725933hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg382273
hg192273
hg182273
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585411
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275000
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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